The Mysterious Case of Baby Mc Donald Diagnosis

The Mysterious Case of Baby Mc. Donald Diagnosis: Cystic Fibrosis

Symptoms of the Cystic Fibrosis Heavy, productive coughing Frequent lung infections Shortness of breath Malnutrition, Inferior growth rate Low immune system Salty tasting skin Greasy and foul smellingstools

Background Information Cystic fibrosis is a genetic disorder that causes the body to produce thick and sticky mucus. It is a hereditary chronic disease. You cannot get it by just touching someone or getting into contact with their body fluids.

Characteristics of Cystic Fibrosis Heavy lung congestion that holds bacteria into the lungs leading to infections. These infections can be dangerous to the patient. Low enzyme production due to blockage of the pancreatic duct. Mal absorption of food.

Diagnosis Genetic testing is used to determine cystic fibrosis in the prenatal and infancy stages. The main test used to diagnose cystic fibrosis is the sweat test. This test measures the amount of salt in a patient’s sweat. It is known that people with cystic fibrosis have higher salt contents in their sweat.

Histology Cystic fibrosis blocks the pancreatic ducts and causes intestinal blockages due to its thick mucus. Cystic fibrosis patients may also take steroids to reduce inflammation and lung deterioration. As inflammation of the air passage walls reduces, the airway clears up for proper respiration.

Genetics The gene responsible for cystic fibrosis was only discovered in 1989

Genetics Both parents should be carriers of a mutated copy of a gene called cystic fibrosis trans-membrane conductance regulator or CFTR. The CFTR gene is the gene responsible for correct chloride transport in cells mainly in the respiratory system and the digestive system.

Internist This disease is more common among people coming from this descent rather than among Asians, African. Americans or Africans. One in twenty people with Caucasian or Ashkenazi Jewish ancestry are carriers of the defective CFTR gene.

Research Scientist Research has made possible new lung images and lung transplants. Finding a reliable process to deliver a normal gene to the lining cells of the airways has been quite a challenge. Options like the use of altered viruses, synthetic vectors, fat capsules, and so on have been experimented upon. Research is being done to find ways to manipulate proteins produced by cystic fibrosis genes. This can help with salt and water movement through the cells, thus minimizing mucus buildup.

Treatment Plan There is no known cure for cystic fibrosis. However, it is very much treatable and manageable. Treatment depends on how early this disease has been diagnosed.

Treatment Plan Cystic fibrosis patients need to do physical therapy daily to clear the lungs of mucus. Patients need to take enzyme replacement medication to be able to absorb fat and protein. It requires lifelong care.

Treatment Plan Management of Digestive Problems Management of Respiratory Problems • High calorie Diet Anti-inflammatory • Pancreatic enzymes • Mucus thinners for medications Oxygen Therapy intestines • Antacids Lung Transplantation